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Seronegative Mediastinal Coccidioidomycosis as a Novel Presentation of CTPS1 Combined Immunodeficiency
Inborn errors of immunity may present with susceptibility to coccidioidomycosis. This is especially so in disorders impairing the interferon-γ and interleukin 12 signaling axis. We describe the first case of cytidine nucleotide triphosphate synthetase 1 (CTPS1) deficiency, a combined immunodeficienc...
Autores principales: | Krase, Ifat Z, Woodward, James, Bauer, Cindy S, Miller, Holly, Sacco, Keith |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9379812/ https://www.ncbi.nlm.nih.gov/pubmed/35983265 http://dx.doi.org/10.1093/ofid/ofac403 |
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